| Molecular analysis and protein processing in late-onset pompe disease patients with low levels of acid α-glucosidase activity. | |
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MedLine Citation:
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PMID: 21484825 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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INTRODUCTION: Pompe disease (glycogen storage disease type II, acid maltase deficiency) is caused by deficiency of lysosomal acid α-glucosidase (GAA). A few late-onset patients have been reported with skin fibroblast GAA activity levels of <2%. METHODS: We measured GAA activity in skin fibroblasts from 101 patients with late-onset Pompe disease. Whenever possible, we performed Western blot analysis and correlated the results with GAA activity and GAA gene mutations. RESULTS: Thirteen patients (13%) had skin fibroblast GAA activity of <1% of normal. Although there was wide genetic heterogeneity, none of these patients carried the common late-onset mutation c.-32-13T>G. We performed Western blot on 11 patients with <1% GAA activity. All produced GAA protein that was at lower levels and/or was abnormally processed. DISCUSSION: There is no common mutation associated with <1% GAA activity in late-onset Pompe disease patients. Most patients produce unprocessed forms of GAA protein compared with patients with higher GAA activity. Muscle Nerve, 2011. |
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Authors:
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Deeksha S Bali; Adviye A Tolun; Jennifer L Goldstein; Jian Dai; Priya S Kishnani |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Muscle & nerve Volume: 43 ISSN: 1097-4598 ISO Abbreviation: Muscle Nerve Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-04-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: United States |
Other Details:
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Languages: eng Pagination: 665-70 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Wiley Periodicals, Inc. |
Affiliation:
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Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 801 Capitola Drive, Suite 6, Durham, North Carolina 27713, USA. bali0001@mc.duke.edu. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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